Varaico: Literature-Extracted Genetic Variants

Gene:GCK
Variant:p.E443delFs

GCK

1,015 papers

RefSeq Summary

This gene encodes a member of the hexokinase family of proteins. Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. In contrast to ot...

Pfam Domains

Hexokinase_1aa 15–215UCSCHexokinase
Hexokinase_2aa 16–133UCSCHexokinase
Hexokinase_2aa 221–455UCSCHexokinase

Gene Aliases

HGNC Name

glucokinase

HGNC Previous Symbol

MODY2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000162.5
p.E443delFs
c.1327delC
Surrounding Variants
1 paper
NM_001354802.1
p.E63V
c.188A>T
4 papers
NM_000162.5
p.E443K
c.1327G>A
1 paper
NM_000162.5
p.G444R
c.1330G>C
1 paper
NM_000162.5
p.E442delFs
c.1324delC
5 papers
NM_000162.5
p.E442*
c.1324G>T
12 papers
NM_000162.5
p.E442K
c.1324G>A
1 paper
NM_000162.5
p.I439_E440delFs
c.1316_1320del5
1 paper
NM_000162.5
p.E442fs
c.1324_1325fs
1 paper
NM_000162.5
p.S445C
c.1333A>T
3 papers
NM_000162.5
p.S445R
c.1333A>C
1 paper
NM_000162.5
p.S445I
c.1334G>T
1 paper
NM_000162.5
p.S445T
c.1334G>C
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